複合型モリブデン酵素欠損症
WordNet
- a special situation; "this thing has got to end"; "it is a remarkable thing"
- a separate and self-contained entity
- an action; "how could you do such a thing?"
- an artifact; "how does this thing work?"
- an entity that is not named specifically; "I couldnt tell what the thing was"
- any attribute or quality considered as having its own existence; "the thing I like about her is ..."
- a persistent illogical feeling of desire or aversion; "he has a thing about seafood"; "she has a thing about him"
- a special abstraction; "a thing of the spirit"; "things of the heart"
- a special objective; "the thing is to stay in bounds"
- a statement regarded as an object; "to say the same thing in other terms"; "how can you say such a thing?"
- an event; "a funny thing happened on the way to the..."
- join for a common purpose or in a common action; "These forces combined with others"
- harvester that heads and threshes and cleans grain while moving across the field
- add together from different sources; "combine resources"
PrepTutorEJDIC
- 〈C〉(形のある)『物』,物体;(生物に対しての)『無生物』 / 〈C〉(形のない)『もの』,事,事柄,でき事 / 《複数形で》事情,事態,状勢,状況 / 《複数形で》(すべての)事物,事柄 / 《通例 the~》(努力・活動などの)目的,目標 / 〈C〉衣服,衣類・《one's things》持ち物,所持品,身の回り品 / 《複数形で》道具,用具・〈C〉《親愛・哀れみ・軽べつなどの感情をこめて》人,者,やつ / 《the~》《話》(…の)流行《+in+名》
- …'を'『結合する』,合同する / …'を'兼ね備える;(…と)…'を'兼ね合わさせる《+『名』+『with』+『名』》 / …'を'化合させる;(…と)…'を'化合させる《+『名』+『with』+『名』》 / 『結合する』,連合する,合同する / (…と)化合する《+『with』+『名』》 / 連合,合同;(特に)企業合同,政治連合 / (また『combine harvester』)(刈り取りと脱穀が同時にできる)複式収穫機,コンバイン
- 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
- 《前述の名詞または文脈でそれと分かる名詞に付けて》『その』,あの,名の / 《唯一の事物に付けて》 / 《方角・自然現象に付けて》 / 《用具・楽器・特定の病気などに付けて》 / 《修飾吾[句]を伴う名詞に付けて》 / 《単数普通名詞に付けて》(1)《種族全体》…『というもの』 / 《複数名詞または集合名詞に付けて》 / 《単位》『…につき;…単位[で]』 / 《身体の一部に付けて,所有格に代わる》 / 《形容詞に付けて》 / 《固有名詞に付けて》 / 《強意用法に》『随一の』,典型的な / 《「the+比較級,the+比較級」の形で》『…すればするほどそれだけ』 / 《比較級の前に》(…につれて,のために)『それだけ』,ますます
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
UpToDate Contents
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English Journal
- Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
- Reiss J1, Hahnewald R.
- Human mutation.Hum Mutat.2011 Jan;32(1):10-8. doi: 10.1002/humu.21390.
- All molybdenum-containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also is called "universal molybdenum cofactor." In humans, four molybdoenzymes are known: aldehyde oxidase
- PMID 21031595
- Genetics of molybdenum cofactor deficiency.
- Reiss J1.
- Human genetics.Hum Genet.2000 Feb;106(2):157-63.
- Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdoenzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. Effective therapy is not available for this rare disease, which results in neonatal seizures and other neurological symptoms identical to those of
- PMID 10746556
- An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency.
- Johnson JL1, Rajagopalan KV.
- Journal of inherited metabolic disease.J Inherit Metab Dis.1995;18(1):40-7.
- Sulphite oxidase deficiency occurs in man in two forms, as the isolated deficiency and as a syndrome of combined molybdoenzyme deficiency. This latter pleiotropic condition has as its underlying cause a defect in the synthesis of the molybdenum cofactor required for the activity of all molybdoenzyme
- PMID 7623441
Related Links
- 1. Hum Genet. 2000 Feb;106(2):157-63. Genetics of molybdenum cofactor deficiency. Reiss J. Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdoenzymes sulphite oxidase, xanthine ...
- Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdoenzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. Effective therapy is not available for this ra
★リンクテーブル★
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- 英
- combined deficiency of the molybdoenzymes
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- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
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- 関
- ally、associate、bind、binding、bond、bonding、combination、combined application、complicate、concomitant、concurrent、conjoin、conjugate、conjugation、conjunction、connect、connection、couple、dock、engage、engagement、join、ligate、linkage、merge、merger、symphysial、union
[★]
[★]
- 関
- mixed